{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T23:01:36Z","timestamp":1785020496474,"version":"3.55.0"},"reference-count":56,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,15]],"date-time":"2021-03-15T00:00:00Z","timestamp":1615766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1 TR002377"],"award-info":[{"award-number":["UL1 TR002377"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sex chromosome aneuploidies (SCAs) occur in 1 in every 400 births. SCAs are highly variable and have uncertain prognoses, complicating the delivery of prenatal cell\u2010free DNA (cfDNA) results or diagnosis following amniocentesis or chorionic villus sampling. Using a mixed\u2010methods approach, we explored the experiences of parents receiving a prenatal diagnosis of a fetus with SCA. Responses to open\u2010ended questions were qualitatively analyzed. Of the 323 parents who completed the survey, 122 received a prenatal diagnosis and answered at least one open\u2010ended question. Most parents did not recall being informed that cfDNA screening or amniocentesis could reveal the presence of a SCA prior to testing and described feeling unprepared for a positive result. Variation was found between parents who were delivered a diagnosis by a genetic professional versus other clinical specialties. Many parents expressed that the diagnosis was delivered in a way that emphasized the negative attributes of the SCA and that they were provided limited support materials. Parents who received a prenatal diagnosis of a SCA expressed a desire for more supportive delivery of prenatal diagnosis that focuses on parental education and nuanced discussion of potential phenotypes. Genetic counselors should be aware of the range of parental experiences when receiving a SCA diagnosis from non\u2010genetic providers. Prenatal SCA diagnoses are predicted to increase as prenatal cfDNA screening becomes more widely used. Collaborations for greater provider education and comprehensive materials on SCAs are essential to facilitate the delivery of SCA diagnoses and improve parent understanding and support.<\/jats:p>","DOI":"10.1002\/jgc4.1407","type":"journal-article","created":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T06:37:38Z","timestamp":1615876658000},"page":"1407-1417","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences"],"prefix":"10.1002","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0127-9555","authenticated-orcid":false,"given":"Kirsten A.","family":"Riggan","sequence":"first","affiliation":[{"name":"Biomedical Ethics Research Program Mayo Clinic Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1122-9268","authenticated-orcid":false,"given":"Brianna","family":"Gross","sequence":"additional","affiliation":[{"name":"Division of Neurology Children\u2019s Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2117-2165","authenticated-orcid":false,"given":"Sharron","family":"Close","sequence":"additional","affiliation":[{"name":"Nell Hodgson Woodruff School of Nursing Emory University Atlanta GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9211-132X","authenticated-orcid":false,"given":"Abigail","family":"Weinberg","sequence":"additional","affiliation":[{"name":"Clinical Genetics NYU Winthrop Hospital Mineola NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6136-9256","authenticated-orcid":false,"given":"Megan A.","family":"Allyse","sequence":"additional","affiliation":[{"name":"Biomedical Ethics Research Program Mayo Clinic Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,15]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.322.7284.463"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001051"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.12688\/wellcomeopenres.14904.1"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31789"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.83"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpuro0775"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021491"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2016.1225035"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ecc.12877"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-018-2168-4"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-018-1662-z"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2018.1481033"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200001)20:1<37::AID-PD748>3.0.CO;2-G"},{"key":"e_1_2_10_15_1","unstructured":"Clinical and Translational Science Awards Consortium(2011).Community Engagement Key Function Committee Task Force on the Principles of Community Engagement. 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